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Centre For Child Health >> Treatment Offered >> Genetic and Fetal medicine

Genetic and Fetal medicine

The division of Clinical Genetics and Fetal Medicine is involved in the accurate diagnosis, comprehensive management, counseling and prenatal diagnosis of common and rare genetic and nongenetic disorders. The concept of “Fetus as a patient” is new and here we are involved in providing complete solutions to fetal diseases.

Genetic and Fetal medicine services are basically aimed towards prevention.

They focus 5 main issues related to pregnancy
1. Prevention of Down syndrome
2. Prevention of Thalassemia
3. Prevention of Congenital malformations
4. Prevention of Preeclampsia
5. Prevention of Still births

The rapid & exciting advances in the field of research in genetics during last century have found a lot of application in clinical medicine. There has been a exponential growth of knowledge of genetics day by day and a time has come where all this progress should be translated into clinical utility. The genetics was restricted to labs only till the recent past but now this specialty is finding application in clinical practice. Management of genetic disorders is still mainly palliatives or out of reach of common people. Genetic counseling & prenatal diagnosis is still the only available way for prevention of these genetic disorders.

There has been increasing awareness among clinicians and with the reduction in the mortality rates due to infectious diseases, the contribution of genetic disorders to the disease is becoming more. These disorders are no longer considered a rare entity and they can be seen by any clinician. Their impact is huge among the families that suffer from these disorders. Physical disabilities and mental subnormalities, the usual manifestations of most genetic disorders, tax the mental and economic stability of the affected families and the society as a whole and many of these disorders are now preventable and some treatable when diagnosed prenatally.

Services offered - Clinical Genetics and Fetal Medicine
1. Genetic counseling services by highly trained medical geneticist for
 Chromosomal diseases
 Single gene disorders
 Teratogen (drug / radiation) exposure
 Previous Child with mental / physical handicap
 Family history of Genetic Diseases

2. Prenatal diagnosis by amniocentesis / CVS/ Cordocentesis to exclude various genetic & non genetic disorders related to all specialty of medicine, such as:
 Down Syndrome or any other chromosomal diseases
 Thalassemia and other hemoglobinopathies
 Duchenne Muscular Dystrophy (DMD)
 Spinal Muscular Atrophy (SMA)
 Congenital adrenal hyperplasia
 Cystic fibrosis

3. Counseling for abnormal Genetic Sonogram for soft markers / congenital malformations

4. Counseling and management for Intrauterine Infections (TORCH) - PCR for CMV, Toxoplasma, Rubella, Chickenpox and Parvovirus.

5. Recurrent abortions – evaluation & management which includes LIT therapy

6. Recurrent intrauterine death (IUD) etiological evaluation & management.

7. Diagnosis and genetic testing for neurological disorder such as Huntington chorea, spinocerebellar ataxia

8. Neuromuscular disorders such as DMD, SMA

9. Counseling and genetic testing for familial cancers such as: Breast & Ovarian Cancer.

10. Fetal Autopsy by genetic expert for etiological diagnosis & counseling for next pregnancy

11. Primary amenorrhoea

12. Genetic tests for Male infertility

13. Dysmorphology

14. In born errors of metabolism

15. Genomic testing

16. Preconception / Premarital Counseling

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